Abstract
Lysosomal storage diseases (LSDs) are a heterogeneous group of inherited disorders
caused by loss-of-function mutations in genes encoding for lysosomal enzymes/proteins.
The consequence is a progressive accumulation of substrates in these intracellular
organelles, resulting in cellular and tissue damage. The overall incidence is about
1/8000 live births, but is likely underestimated. LSDs are chronic progressive multi-systemic
disorders, generally presenting with visceromegaly, and involvement of the central
nervous system, eyes, the skeleton, and the respiratory and cardiovascular systems.
The age at onset and phenotypic expression are highly variable, according to the specific
enzymatic defect and tissues involved, the residual activity, and the disease-causing
genotype. Enzyme-replacement therapies and substrate-reduction therapies have recently
become available, leading to the improvement in symptoms, disease progression and
quality of life of affected individuals. Liver involvement and hepatosplenomegaly
are frequent features of LSDs and a hallmark of adult-onset forms, frequently leading
to medical attention. LSDs should therefore be considered in the differential diagnosis
of liver disease with organomegaly. The present document will provide a short overview
of adult-onset LSDs with hepatic involvement, highlighting the specificities and systemic
manifestations of the ones most frequently encountered in clinical practice, which
may hint at the correct diagnosis and the appropriate treatment.
Keywords
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Article info
Publication history
Published online: January 02, 2020
Accepted:
December 10,
2019
Received:
August 19,
2019
Identification
Copyright
© 2019 Editrice Gastroenterologica Italiana S.r.l. Published by Elsevier Ltd. All rights reserved.
